Abstract：
:In cystic fibrosis (CF), mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene disrupt the capacity of the encoded protein to function as a channel to transport chloride ions and water across cell membranes. The consequences are deleterious, system-wide, and immensely variable, even among patients with the same CFTR genotype. This underscores the need to characterize the mechanisms contributing to CF pathophysiology. Gene replacement and gene editing therapies have been pursued intensively and are expected to provide a one-time treatment for CF. However, gene replacement therapy is limited by the lack of efficient vectors to deliver functional copies of CFTR to cells without immunological complications, while gene editing technologies such as CRISPR/Cas9 are still in their infancy, mainly useful in somatic cells and limited by off-target insertions. Small molecule treatments targeted at potentiating or correcting CFTR have shown clinical benefits, but they are limited to a few CFTR mutations and insufficient to overcome challenges related to clinical heterogeneity. Transcriptome profiling approaches have emerged as robust tools capable of characterizing phenotypic variability and revealing novel molecular targets with therapeutic potential for CF. We summarize current insights gained through transcriptome profiling approaches in CF studies and recent advances in molecular therapeutics.
journal_name
Genes (Basel)journal_title
Genesauthors
Ideozu JE,Zhang X,McColley S,Levy Hdoi
10.3390/genes10030180subject
Has Abstractpub_date
2019-02-26 00:00:00issue
3issn
2073-4425pii
genes10030180journal_volume
10pub_type
杂志文章,评审相关文献
Genes文献大全abstract：:The yeast Exophiala dermatitidis exhibits high resistance to γ-radiation in comparison to many other fungi. Several aspects of this phenotype have been characterized, including its dependence on homologous recombination for the repair of radiation-induced DNA damage, and the transcriptomic response invoked by acute γ-...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11101128
更新日期：2020-09-25 00:00:00
abstract：:Listeria monocytogenes is a major human foodborne pathogen that is prevalent in the natural environment and has a high case fatality rate. Whole genome sequencing (WGS) analysis has emerged as a valuable methodology for the classification of L. monocytogenes isolates and the identification of virulence islands that ma...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes9030171
更新日期：2018-03-20 00:00:00
abstract：:The recently discovered Methanonatronarchaeia are extremely halophilic and moderately thermophilic methyl-reducing methanogens representing a novel class-level lineage in the phylum Euryarchaeota related to the class Halobacteria. Here we present a detailed analysis of 1D-nano liquid chromatography-electrospray ioniza...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes9020028
更新日期：2018-01-23 00:00:00
abstract：:Croatian viticulture was most extensive at the beginning of the 20th century, when about 400 varieties were in use. Autochthonous varieties are the result of spontaneous hybridization from the pre-phylloxera era and are still cultivated today on about 35 % of vineyard area, while some exist only in repositories. We pr...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11070737
更新日期：2020-07-02 00:00:00
abstract：:The performance of genomic prediction (GP) on genetically correlated traits can be improved through an interdependence multi-trait model under a multi-environment context. In this study, a panel of 237 soft facultative wheat (Triticumaestivum L.) lines was evaluated to compare single- and multi-trait models for predic...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11111270
更新日期：2020-10-28 00:00:00
abstract：:Silver-Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(...
journal_title：Genes
pub_type：
doi：10.3390/genes11121461
更新日期：2020-12-05 00:00:00
abstract：:Network medicine relies on different types of networks: from the molecular level of protein⁻protein interactions to gene regulatory network and correlation studies of gene expression. Among network approaches based on the analysis of the topological properties of protein⁻protein interaction (PPI) networks, we discuss ...
journal_title：Genes
pub_type： 杂志文章,评审
doi：10.3390/genes9090437
更新日期：2018-08-31 00:00:00
abstract：:In contrast to CRISPR/Cas9 nucleases, CRISPR base editors (BE) and prime editors (PE) enable predefined nucleotide exchanges in genomic sequences without generating DNA double strand breaks. Here, we employed BE and PE mRNAs in conjunction with chemically synthesized sgRNAs and pegRNAs for efficient editing of human i...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11050511
更新日期：2020-05-06 00:00:00
abstract：:Pancreatic ductal adenocarcinoma is an extremely aggressive disease with a high metastatic potential. Most patients are diagnosed with metastatic disease, at which the five-year survival rate is only 3%. A better understanding of the mechanisms that drive metastasis is imperative for the development of better therapeu...
journal_title：Genes
pub_type： 杂志文章,评审
doi：10.3390/genes11010006
更新日期：2019-12-19 00:00:00
abstract：:Cisplatin is a chemotherapeutic agent widely used for multiple indications. Unfortunately, in a substantial set of patients treated with cisplatin, dose-limiting acute kidney injury (AKI) occurs. Here, we assessed the association of 3 catechol-O-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) with incr...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11040358
更新日期：2020-03-27 00:00:00
abstract：:B chromosomes are enigmatic heritable elements found in the genomes of numerous plant and animal species. Contrary to their broad distribution, most B chromosomes are non-essential. For this reason, they are regarded as genome parasites. In order to be stably transmitted through generations, many B chromosomes exhibit...
journal_title：Genes
pub_type： 杂志文章,评审
doi：10.3390/genes10020123
更新日期：2019-02-08 00:00:00
abstract：:Porcine epidemic diarrhea (PED) is a major gastrointestinal disease afflicting suckling pigs that causes huge industrial economic losses. In this study, we investigated microbiota from the colonic mucosa and content in healthy and PED piglets. High-throughput 16S rRNA gene sequencing was performed to identify inter-gr...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11010044
更新日期：2019-12-30 00:00:00
abstract：:One of the hallmarks of cancer cells is their indefinite replicative potential, made possible by the activation of a telomere maintenance mechanism (TMM). The majority of cancers reactivate the reverse transcriptase, telomerase, to maintain their telomere length but a minority (10% to 15%) utilize an alternative lengt...
journal_title：Genes
pub_type： 杂志文章,评审
doi：10.3390/genes11020133
更新日期：2020-01-27 00:00:00
abstract：:The MinION sequencer has made in situ sequencing feasible in remote locations. Following our initial demonstration of its high performance off planet with Earth-prepared samples, we developed and tested an end-to-end, sample-to-sequencer process that could be conducted entirely aboard the International Space Station (...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11010076
更新日期：2020-01-09 00:00:00
abstract：:The Kelpie is a breed developed in Australia for use as a livestock herding dog. It has been proposed that the development of the breed included gene flow from the Australian Dingo (Canis dingo), a canid species present on the Australian continent for around 4000 years. The Kelpie breed is split between working and co...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes10050337
更新日期：2019-05-03 00:00:00
abstract：:The telomerase RNA in yeasts is large, usually >1000 nt, and contains functional elements that have been extensively studied experimentally in several disparate species. Nevertheless, they are very difficult to detect by homology-based methods and so far have escaped annotation in the majority of the genomes of Saccha...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes9080372
更新日期：2018-07-26 00:00:00
abstract：:DNA damage leads to genome instability by interfering with DNA replication. Cells possess several damage bypass pathways that mitigate the effects of DNA damage during replication. These pathways include translesion synthesis and template switching. These pathways are regulated largely through post-translational modif...
journal_title：Genes
pub_type： 杂志文章,评审
doi：10.3390/genes11020138
更新日期：2020-01-29 00:00:00
abstract：:Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recog...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes9040216
更新日期：2018-04-17 00:00:00
abstract：:The superior performance of hybrids to parents, termed heterosis, has been widely utilized in animal and plant breeding programs, but the molecular mechanism underlying heterosis remains an enigma. RNA-Seq provides a novel way to investigate heterosis at the transcriptome-wide level, because gene expression functions ...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes10010027
更新日期：2019-01-07 00:00:00
abstract：:Vavilovia formosa is a relict leguminous plant growing in hard-to-reach habitats in the rocky highlands of the Caucasus and Middle East, and it is considered as the putative closest living relative of the last common ancestor (LCA) of the Fabeae tribe. Symbionts of Vavilovia belonging to Rhizobium leguminosarum bv. vi...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes10120990
更新日期：2019-12-01 00:00:00
abstract：:It is well established that embryonic chromosomal abnormalities (both in the number of chromosomes and the structure) account for 50% of early pregnancy losses. However, little is known regarding the potential differences in the incidence and distribution of chromosomal abnormalities between patients with sporadic abo...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes12020141
更新日期：2021-01-22 00:00:00
abstract：:Background: The C34T polymorphism (rs 17602729) in adenosine monophosphate deaminase 1 gene (AMPD1) is associated with muscular energy metabolism in exercise. However, the role of its potential modifying impact on exercise-induced changes in obesity related parameters is unknown. The aim of the study was to determine ...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11050558
更新日期：2020-05-16 00:00:00
abstract：:Histone acts as the core for nucleosomes and is a key protein component of chromatin. Among different histone variants, histone H3 (HH3) variants have been reported to play vital roles in plant development. However, biological information and evolutionary relationships of HH3 genes in cotton remain to be elucidated. T...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes10050355
更新日期：2019-05-09 00:00:00
abstract：:The filamenting temperature-sensitive Z proteins (FtsZs) play an important role in plastid division. In this study, three FtsZ genes were isolated from the cassava genome, and named MeFtsZ1, MeFtsZ2-1, and MeFtsZ2-2, respectively. Based on phylogeny, the MeFtsZs were classified into two groups (FtsZ1 and FtsZ2). MeFts...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes8120391
更新日期：2017-12-15 00:00:00
abstract：:A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The...
journal_title：Genes
pub_type：
doi：10.3390/genes11101175
更新日期：2020-10-08 00:00:00
abstract：:Cancer stem cells (CSCs), having both self-renewal and tumorigenic capacity, utilize an energy metabolism system different from that of non-CSCs. Lipid droplets (LDs) are organelles that store neutral lipids, including triacylglycerol. Previous studies demonstrated that LDs are formed and store lipids as an energy sou...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes12010099
更新日期：2021-01-14 00:00:00
abstract：:The relationship between variation of the repetitive component of the genome and domestication in plant species is not fully understood. In previous work, variations in the abundance and proximity to genes of long terminal repeats (LTR)-retrotransposons of sunflower (Helianthus annuus L.) were investigated by Illumina...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes9090433
更新日期：2018-08-29 00:00:00
abstract：:We set out to assess the NIH/3T3 cell proliferation activity of Arabidopsis oil body-expressed recombinant oleosin-hEGF-hEGF protein. Normally, human epidermal growth factor (hEGF) is purified through complex process, however, oleosin fusion technology provides an inexpensive and scalable platform for its purification...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes11090959
更新日期：2020-08-19 00:00:00
abstract：:Brycon is an important group of Neotropical fish and the principal genus of the family Bryconidae, with 44 valid species that are found in some Central American rivers and practically all the major hydrographic basins of South America. These fish are medium to large in size, migratory, omnivorous, important seed dispe...
journal_title：Genes
pub_type： 杂志文章
doi：10.3390/genes10090639
更新日期：2019-08-23 00:00:00
abstract：:: The organelles of endosymbiotic origin, plastids, and mitochondria, evolved through the serial acquisition of endosymbionts by a host cell. These events were accompanied by gene transfer from the symbionts to the host, resulting in most of the organellar proteins being encoded in the cell nuclear genome and traffick...
journal_title：Genes
pub_type： 杂志文章,评审
doi：10.3390/genes9080412
更新日期：2018-08-14 00:00:00
